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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA913169746
Gene:
Linked Data
ClinVar Variation Id:
690161
ClinVar RCV Id:
RCV000851046
RCV001288304
RCV003985434
dbSNP Id:
rs1556424082
ERepo:
CA913169746/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.12217A>G , J01415.2:m.12217A>G
GRCh38
Search 100 bp 5'
Search 100 bp 3'